Canonical Allele Identifier: CA241233694
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1005710997
gnomAD v3: 12-91111445-A-G
gnomAD v4: 12-91111445-A-G
MyVariant Identifiers: chr12:g.91505222A>G (hg19) chr12:g.91111445A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91111445A>G , CM000674.2:g.91111445A>G GRCh38
NC_000012.11:g.91505222A>G , CM000674.1:g.91505222A>G GRCh37
NC_000012.10:g.90029353A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.-69T>C MANE Select ENSP00000266718.4:n.-69T>C
ENST00000266718.4:c.-69T>C ENSP00000266718.4:n.-69T>C
ENST00000548071.1:n.42T>C
NM_002345.3:c.-69T>C NP_002336.1:n.-69T>C
NM_002345.4:c.-69T>C MANE Select NP_002336.1:n.-69T>C
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